Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder-Reference-Cited by-同舟云学术

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Published:2024-03 Issue:3 Volume:26 Page:101034
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Maroofian Reza^ORCID,Zamani Mina^ORCID,Kaiyrzhanov Rauan,Liebmann Lutz,Karimiani Ehsan Ghayoor,Vona Barbara,Huebner Antje K.,Calame Daniel G.,Misra Vinod K.,Sadeghian Saeid,Azizimalamiri Reza,Mohammadi Mohammad Hasan,Zeighami Jawaher,Heydaran Sogand,Toosi Mehran Beiraghi,Akhondian Javad,Babaei Meisam,Hashemi Narges,Schnur Rhonda E.,Suri Mohnish,Setzke Jonas,Wagner Matias,Brunet Theresa,Grochowski Christopher M.,Emrick Lisa,Chung Wendy K.,Hellmich Ute A.,Schmidts Miriam,Lupski James R.,Galehdari Hamid,Severino Mariasavina,Houlden Henry,Hübner Christian A.

Funder

MRC

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference34 articles.

1. The SLC4 family of bicarbonate (HCO3-) transporters;Romero;Mol Aspects Med,2013

2. The SLC26 gene family of anion transporters and channels;Alper;Mol Aspects Med,2013

3. The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters;Parker;Physiol Rev,2013

4. J. Na+-dependent HCO3- import by the slc4a10 gene product involves Cl− export;Damkier;J Biol Chem,2010

5. Characterization of human SLC4A10 as an electroneutral Na/HCO3 cotransporter (NBCn2) with Cl− self-exchange activity;Parker;J Biol Chem,2008

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. K+-Driven Cl−/HCO3− Exchange Mediated by Slc4a8 and Slc4a10;International Journal of Molecular Sciences;2024-04-22

2. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders;Neurotherapeutics;2024-01